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Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

Lookup NU author(s): Dr Jim StewartORCiD, Dr Joanna Elson

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Abstract

Mutations of mitochondrial DNA (mtDNA) are frequent in humans and are implicated in many different types of pathology. The high substitution rate and the maternal, asexual mode of transmission of mtDNA make it more likely to accumulate deleterious mutations. Here, we discuss recent evidence that mtDNA transmission is subject to strong purifying selection in the mammalian female germ line, limiting the accumulation of such mutations. This process shapes mitochondrial sequence diversity and is therefore probably of fundamental importance for animal evolution and in human mitochondrial disease. © 2008 Macmillan Publishers Limited. All rights reserved.

Publication metadata

Author(s): Stewart JB, Freyer C, Elson JL, Larsson N-G

Publication type: Review

Publication status: Published

Journal: Nature Reviews Genetics

Year: 2008

Volume: 9

Issue: 9

Pages: 657-662

Print publication date: 01/09/2008

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064

URL: http://dx.doi.org/10.1038/nrg2396

DOI: 10.1038/nrg2396

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